Non-Invasive Prenatal Screening

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NIPS video

 Frequently Asked Questions

  • What is NIPS?

    NIPS is a screening test to determine if a pregnancy may be at an increased risk for a particular condition, so the family may decide if they would like to pursue further testing during their pregnancy.

    It looks at small pieces of chromosome material released by the placenta into the mother's blood stream. This test screens chromosomes 21, 18, 13, X and Y for extra or missing copies. The most common conditions screened for are trisomy 21 (Down syndrome), trisomy 18, trisomy 13, Turner syndrome (monosomy X), Klinefelter syndrome (XXY), and triple X syndrome.

    This test will either come back with an increased risk for one of these conditions, or will come back with a decreased risk for all conditions screened for, which is a risk of 1 in 10,000. This screening test can detect approximately 99.2% of cases of Down syndrome, and over 95% of cases of trisomy 18 and 13. However, it is just a screening test and cannot diagnose or rule out any of these conditions in a pregnancy.

  • How does NIPS (non-invasive prenatal screening) differ from first trimester screening?

    Both are screening tests that assess the risk for Down syndrome and trisomy 18 in pregnancy by looking at a sample of a mother's blood.

    First trimester screening measures the levels of two proteins in the mother's blood (PAPP-A and hCG) and combines those results with a 12 week ultrasound to look at a measurement on the back of baby's neck called the nuchal translucency. Combining these numbers provides a risk for the pregnancy to have Down syndrome or trisomy 18.

    NIPS looks at small pieces of chromosome material released by the placenta into the mother's blood stream. No ultrasound is included for the risk analysis. NIPS additionally screens for trisomy 13 and sex chromosome (X and Y) differences in a pregnancy, as well as fetal sex. NIPS is also more accurate at screening for Down syndrome and trisomy 18 than first trimester screening. However, a nuchal translucency scan (part of the first trimester screen) can detect other concerns such as an increased risk for a baby to have a heart defect.

    It is important to remember both tests are just screening tests and neither can diagnose or rule out a condition in pregnancy.

  • What is the fetal fraction?

    NIPS analyzes fetal DNA in the mother's blood. The amount of fetal DNA in the samples is known as the fetal fraction. NIPS is only accurate at or after 10 weeks gestation because this is when there is a high enough fetal fraction to do the analysis. If the test cannot detect enough fetal material, a non-reportable result will be issued. This is also known as a low fetal fraction. Non-reportable results and results with low fetal fractions (below 3%) have been associated with a higher risk for a chromosome condition in that pregnancy. Women with these results should consider meeting with a genetic counselor to discuss the option of further screening (like a level II ultrasound) or repeating their NIPS later in pregnancy?

  • What is the difference between a screening test and a diagnostic test?

    A screening test (NIPS, first trimester screening, maternal serum screening) adjusts a woman's risk to have a pregnancy affected with a specific condition based on certain factors. The result will either increase or decrease the risk for those specific conditions.

    A diagnostic test looks directly at the baby's genetic information to give a yes or no answer as to whether or not a baby is affected by a specific condition. A diagnostic test is the only way to know for sure whether or not a baby is affected during a pregnancy. However, starting with a screening test may help a woman decide if a diagnostic test during a pregnancy is necessary.

  • The NIPS test I had says it has a sensitivity and specificity of 99%. Does that mean my risk is 99% if my screening result is positive?

    No. The sensitivity and specificity refer to the ability of the test to accurately call a negative result negative, or a positive result positive. If you're screening result is "positive" (remember, this is not a diagnosis), the risk is based on your age and the specific condition. This is because the risk for many of the conditions screened for by NIPS increases each year as a woman ages. So as a woman ages, it is more likely for a positive to be a true positive.

    For example, a 21-year-old woman who has a "positive" NIPS for trisomy 13 actually has just a 6% risk that the pregnancy is actually affected. This is because trisomy 13 is a rare condition, NIPS is not as accurate for trisomy 13 as other conditions, and because of her age, her starting risk was very low.

    A 35-year-old woman who has a "positive" NIPS for Down syndrome however, has a 79% chance that the condition is actually present, because her starting risk based on her age was higher, NIPS is most accurate at screening for Down syndrome, and Down syndrome is more common in the general population.

  • If my NIPS is negative does that mean I am not at risk for these conditions in my pregnancy?

    Unfortunately, no. While the risk for Down syndrome, trisomy 18, trisomy 13, Turner syndrome, and Klinefelter syndrome drops to 1 in 10,000 with a "negative" NIPS result, this risk is not 0. While false negatives are rare, they do occur.

  • Can I have NIPS if I am pregnant with twins?

    Yes! However, it is important to note if you have a fraternal twin pregnancy (where the babies each have their own placenta and amniotic sac) the results are less accurate than when used in screening a singleton pregnancy. This is because each twin's placenta may not release the same amount of chromosome material into the mother's bloodstream, leading to one twin being either underrepresented or overrepresented. Therefore, for twins, the risk is not reduced as much with a negative NIPS as it would be in a singleton pregnancy. However, NIPS is still the most accurate blood screening test we have for twin pregnancies for these conditions.

  • Does NIPS always accurately tell me the gender of my baby?

    No! Fetal sex or gender, just like every other part of NIPS, is considered a screening test. While this is by far the most accurate part of NIPS, false results do occur. If you do receive an incorrect fetal sex prediction through NIPS, which is usually noticed at your 20 week ultrasound, do not panic. This does not necessarily mean anything is wrong with the baby. There are many reasons NIPS can predict the incorrect fetal sex or gender.

  • What is expanded NIPS?

    Expanded NIPS refers to NIPS screening tests that look for abnormalities in chromosomes other than 21, 18, 13, X and Y.
    The accuracy of looking for conditions beyond the standard panel drops significantly. However, it may be useful in a situation where there are differences on an ultrasound that are suggestive of a genetic condition and the mother declines diagnostic testing such as an amniocentesis.

    One of the things an expanded NIPS test may look for are microdeletions or small missing pieces of chromosomes. Most of these conditions have a positive predictive value of less than 1%. This means that even if you tested "positive" for a microdeletion on NIPS, your risk may be less than 1% to actually have a child with that condition.

    NIPS is a rapidly growing field. However, the accuracy of these new platforms is not yet well understood. Therefore, it is currently recommended that women interested in pursuing NIPS for screening early in pregnancy have the traditional NIPS panel.

  • Should I still consider having NIPS if I don't have a family history of Down syndrome?

    Yes. In over 95% of cases of Down syndrome there is no family history of this condition. The same can be said for trisomy 13, trisomy 18, Turner syndrome, and Klinefelter syndrome. Therefore, not having a family history of one of these conditions does not decrease your risk for these conditions below your age related risk in pregnancy.
    Similarly, having just one affected relative with one of these conditions does not significantly increase your risk, since that condition was likely new to that person in your family and not inherited. However, having two or more relatives with same chromosome condition may imply an increased risk for that condition.

  • Should I get NIPS if I have a family history of birth defects? What about a family history of cystic fibrosis?

    Standard NIPS only screens for Down syndrome (trisomy 21), trisomy 13, trisomy 18, Turner syndrome (monosomy X), Klinefelter syndrome (XXY), and other possible sex chromosome differences. Most birth defects are not caused by these conditions. Therefore, a negative NIPS cannot identify your risk for other birth defects or genetic conditions.

  • Is there anyone who should not consider NIPS?

    Yes. Women who have undergone an organ transplant are not good candidates for NIPS. This is because small pieces of the organ donor's DNA will be screened with the pieces of fetal DNA, giving an inaccurate result. Additionally, women who are currently affected with cancer should not undergo NIPS, since cancer cells often have chromosome differences that may lead to a false positive NIPS result. Finally, women on blood thinners such as Lovanox or Heparin are significantly more likely to have a non-reportable result, and should consider other screening options.

  • I heard my positive NIPS result may mean I have cancer? Is this true?

    NIPS has detected a small number of cases of maternal cancer during pregnancy. However, these results look very different from a standard positive NIPS result. Often, these results come back positive for many chromosome conditions, giving both the laboratory and the genetic counselor an idea that something beyond the pregnancy may be going on. For example, these results will often say a baby has trisomy 18 AND monosomy 13, while the baby looks perfectly healthy on ultrasound. If you have had a positive NIPS result that turned out to be a false positive, you should not worry about an increased risk for cancer. Fortunately, most laboratories now can tell when an NIPS result is indicating the possibility of maternal cancer, and this would be discussed with you along with your results.

  • Is NIPS covered by my insurance?

    Most insurance companies will cover NIPS for a woman of any age as it is the recommended test for all women interested in screening during pregnancy. However, some insurance companies deny all genetic screening and testing as an exclusion in their policy. If your testing is denied by insurance most NIPS companies will allow you to pay a reduced rate that can range from $100-$350 depending on the company. Ask your provider what company they use and what specific billing policy that company has to determine your exact price.

  • Is one NIPS company better than another?

    Not necessarily. Most companies use very similar technologies for NIPS. Your genetic counselor or health care provider can help determine if one particular company is preferable based on your specific needs. However, for traditional NIPS most companies are equal in accuracy.

Cancer

While most cancers are not hereditary, approximately 5-10% of cancer cases are inherited or passed down from generation to generation.

GGC’s cancer genetic counseling service involves the careful evaluation of your medical and family history to identify which families may have an increased risk of hereditary cancer. A cancer genetic counseling consultation will involve a review of your history, the likelihood of having inherited cancer, cancer screening recommendations, what genetic testing is available and the risks, benefits and limitations of that testing. Not all individuals who have genetic counseling will choose to have genetic testing.

Cancer genetic counseling may be right for you if:

  • you have been diagnosed with breast, ovarian, colon, endometrial (uterine) or renal cancer before age 50
  • you have multiple relatives with the same or related cancers (breast/ovarian within a family or colon/endometrial within a family)
  • you or a family member has been diagnosed with more than one type of cancer (bilateral breast cancer, breast and ovarian, colon and endometrial)
  • have cancer in more than one generation of your family
  • you have a rare cancer or a type of cancer that occurs more often in the other gender (like breast cancer in a male)
  • you have breast or ovarian cancer and are a member of certain ethnic backgrounds (e.g. Ashkenazi Jewish)

Specialty Clinics

Many genetic disorders are complex and affect multiple areas of a patient’s health and development. In order to provide comprehensive and convenient care for families, our geneticists and genetic counselors participate in several multidisciplinary clinics.

In these specialty clinics, patients can be evaluated by and meet with multiple specialists during a single visit. This also allows a patient’s physicians to collaborate and discuss appropriate follow-up and treatment measures more easily. For more information about any of these specialty clinics, contact the Greenville or Columbia office.

DDSN Clinics

The Greenwood Genetic Center provides genetic evaluations for individuals and families served by the SC Department of Disabilities and Special Needs (SCDDSN). These clinical evaluations may provide a better understanding of the cause of the disability and can provide information for families regarding medical issues, future expectations and reproductive risks.

Individuals and families interested in a genetic evaluation can discuss a referral with their early interventionist or service coordinator or they may call the GGC office that is closest to them in Greenwood, Charleston, Columbia, Florence or Greenville.

Our Genetic Service Coordinators serve patients in all counties of SC. Individuals referred through DDSN can be seen at a the nearest GGC office or at a clinic in their county of residence.

GGC Office Counties served Genetic Service Coordinator
Charleston Beaufort, Berkeley, Charleston, Colleton, Dorchester, Hampton, Jasper & Coastal Center Debbie Bealer, RN
(843) 746-1001
(866) 588-4363 - toll free
Columbia Allendale, Bamberg, Barnwell, Orangeburg & Richland/Lexington
(803) 799-5390, ext 11
(800) 679-5390 - toll free
Columbia Aiken, Calhoun, Chester, Fairfield, Kershaw, Lancaster, Newberry Richland/Lexington & York Amy Dobson, MS
(803) 799-5390
(800) 679-5390 - toll free
Florence Dillon, Georgetown, Horry, Marion & Williamsburg Jennifer Lynch, BA, MPA
(843) 248-8875
Florence Chesterfield, Clarendon, Darlington, Florence, Lee, Marlboro & Sumter Shannon Mackey Bell, BA
(843) 678-9090
Greenville Anderson, Cherokee, Greenville, Oconee, Pickens, Spartanburg Jessica Worthington, BS
(864) 250-7944
(866) 478-4363 - toll free
Greenwood Abbeville, Edgefield, Greenwood, Laurens, McCormick, Saluda & Whitten Center
(864) 941-8100
(888) 442-4363 - toll free

Prenatal

Fortunately most babies are born healthy. However, in some pregnancies a risk for birth defects or other genetic problems may be identified.

The Greenwood Genetic Center provides prenatal genetic counseling services for those families with a concern about the health of their unborn baby. A prenatal genetic counselor can provide information about the reason for referral, the chances of a specific birth defect or condition to be present as well as the risks, benefits and limitations of prenatal diagnosis and screening tests. Genetic counselors can also meet with couples prior to pregnancy to discuss potential concerns. The counselor will also discuss family history, so patients should be prepared to answer questions about their personal and family medical histories.

Referral reasons:

  • Maternal age of 35 or older at delivery
  • Positive prenatal screening test results
  • Prenatal ultrasound findings
  • Prenatal exposures to medications, drugs, alcohol, radiation, chemicals or infections
  • Family history of birth defects, intellectual disabilities or a genetic disorder
  • Personal history of 2 or more pregnancy losses
  • Couples from an ethnic background known to have a higher risk for certain genetic disorders
  • Couples who are blood relatives
  • Couples with family history or other concerns who are considering a pregnancy

For additional information, see our patient education brochures:
Prenatal Genetic Counseling
Prenatal Screening and Testing

Study Participation

Eligible participants include individuals from birth to 60 years who have had genetic testing and have a documented molecular diagnosis of Angelman syndrome OR patients with a clear clinical diagnosis of Angelman syndrome who do not have a known molecular defect.

For more information, see the Angelman syndrome study fact sheet or contact This email address is being protected from spambots. You need JavaScript enabled to view it. , study coordinator.